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Полногеномное секвенирование (WGS) с использованием технологии PacBio HiFi: комплексный подход к клиническому применению в Юго-Восточной Азии

Comparison of clinical sequencing platforms for whole-genome analysis

Feature

Illumina SR-WGS

ONT R10.4.1

PacBio Revio HiFi

PacBio Vega HiFi

Read length

150 bp

10–100+ kb (ultra-long)

10–25 kb

10–25 kb

Per-base accuracy

~Q30 (99.9%)

Q20–Q30

Q30+ (99.9%)

Q30+ (99.9%)

SNV recall (GIAB)

≥99.5%

99.4–99.7%

≥99.9%

≥99.9%

SV recall (≥50 bp)

30–50%

~90%

≥90%

≥90%

Repeat expansions

Mostly invisible

Native detection

Native detection

Native detection

Native 5mC/5hmC/6mA

No

Yes

Yes (SPRQ-Nx)

Yes (SPRQ-Nx)

Throughput/run

Very high

Variable

~4–5 genomes/24h

1 SMRT cell

Best clinical fit

Population panels, oncology panels

Ultra-long phasing, rapid in-field

Population WGS hub

Tertiary clinical site